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rs80338884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338884(A;A)
Make rs80338884(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100629313
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338884
ebirs80338884
HLIrs80338884
Exacrs80338884
Varsomers80338884
Maprs80338884
PheGenIrs80338884
hapmaprs80338884
1000 genomesrs80338884
hgdprs80338884
ensemblrs80338884
gopubmedrs80338884
geneviewrs80338884
scholarrs80338884
googlers80338884
pharmgkbrs80338884
gwascentralrs80338884
openSNPrs80338884
23andMers80338884
23andMe allrs80338884
SNP Nexus

SNPshotrs80338884
SNPdbers80338884
MSV3drs80338884
GWAS Ctlgrs80338884
Max Magnitude0
ClinVar
Risk rs80338884(A;A)
Alt rs80338884(A;A)
Reference rs80338884(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100226936C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020536.1,


[PMID 18245657] New TFR2 mutations in young Italian patients with hemochromatosis.